Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed

A. Thoalnoon, Omar; A. Kareem, Adel; Z. Hammoodi, Husham

doi:10.22092/ari.2022.359480.2431

تعداد نشریات	281
تعداد نشریات سازمان	80
تعداد شماره‌ها	2,393
تعداد مقالات	27,727
تعداد مشاهده مقاله	15,420,786
تعداد دریافت فایل اصل مقاله	12,231,210

	Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed
Archives of Razi Institute
مقالات آماده انتشار، پذیرفته شده، انتشار آنلاین از تاریخ 22 مرداد 1401
نوع مقاله: Original Articles
شناسه دیجیتال (DOI): 10.22092/ari.2022.359480.2431
نویسندگان
Omar A. Thoalnoon ¹؛ Adel A. Kareem²؛ Husham Z. Hammoodi³
¹Pediatric neurologistChildren Welfare Teaching Hospital
²Consultant pediatric neurology, Children Welfare Teaching hospital, Baghdad,
³Consultant pediatric neurology, Children Welfare Teaching hospital, Baghdad, Iraq
چکیده
Background: Phenylalanine is an essential amino acid. Dietary phenylalanine converts to tyrosine by activity of phenylalanine hydroxylase (PAH). Phenylketonuria (PKU) is an autosomal-recessive disorder result from enzyme phenylalanine hydroxylase (PAH) Deficiency. Elevations of phenylalanine in the plasma classified depend on the degree of enzyme deficiency to classic PKU (PHE ≥1200 μmol/l) and mild PKU (PHE >600 μmol/l and <1200 μmol/l) and non-PKU-HPA (hyperphenylalanemia) or mild hyperphenylalaninaemia (MHP) (PHE ≤600 μmol/l). Patient and method: this is a single center study to consecutive patients who are managed at the pediatric neurology department and out patient clinic at Welfare Teaching Hospital, Medical City, Baghdad, during the period from 1st of October 2019 to 1st of October 2020. A total of 5 patients who were prove to have a non Pku hyperphenylalaninaemia (PHE < 600 µmol/L) who conﬁrmed by HPLC (high performance liquid chromatography) analysis and proved had sepiapterin responsive by sepiapterin loading test which showed >30% decreasing in phenylalanine level. All patients were present with a neurological complaint, their age between three months and 15 years old and the treatment was sapropterin, L.dopa and 5HT (5-hydroxytreptamine). The study included the demographic and clinical profile, biochemical response to sepiapterin and clinical response to treatment according to development quotient. Result: Five patients had been enrolled in this study; all of them had gross motor developmental delay as a main presentation, one case also had seizure and dystonia and one case had fluctuation of symptoms, 4 cases had consanguineous marriage and 2 cases had a family history of same condition, all cases had more than 30% decreasing of phenylalanine level by BH4 loading test, all cases were showed significant clinical improvement after treatment except one of them which was showed a moderate improvement. The tetrahydrobiopterin therapy significantly enhanced dietary phenylalanine tolerance and permitted a phenylalanine-free medical formula to be discontinued in all patients in whom phenylalanine within a therapeutic targe (120-300 μM] were achieved. Conclusion: Mild hyperphenylalaninemia is not a mild disease as it may have related to neurotransmitter disorders.
کلیدواژه‌ها
Mild hyperphenylalaninemia؛ BH4 loading test؛ Tetrahydrobiopterin؛ Neurotransmitters

آمار تعداد مشاهده مقاله: 5

Journal Management System. Designed by sinaweb.

آمار

Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed